ClinVar Miner

Submissions for variant NC_000009.11:g.(?_98002921)_(98079991_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318734 SCV001509447 uncertain significance Fanconi anemia 2020-10-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 1-4 of the FANCC gene. This region includes the initiator codon of the gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the FANCC gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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